|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.
|
27476540 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric Aciduria type I (GA-I) is caused by mutations in the GCDH gene.
|
30686684 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular determination of glutaric aciduria type I in individuals from southwest Iran.
|
25204480 |
2014 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The clinical data and glutaryl-CoA dehydrogenase (GCDH) genetic test results of two cases of late-onset GA-I in Uighur were collected and analyzed, and reviewed with relevant literature.
|
28352331 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by mutations in the glutaryl-CoA dehydrogenase gene (GCDH), leading to an accumulation and high excretion of glutaric acid and 3-hydroxyglutaric acid.
|
18775954 |
2008 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I.
|
8541831 |
1995 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric acidemia type I (GA I) is a neurometabolic disorder of lysine (Lys) catabolism caused by glutaryl-CoA dehydrogenase (GCDH) deficiency.
|
31121257 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
|
9266361 |
1997 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
|
10066389 |
1999 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
|
28062662 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
|
28389991 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
|
10649503 |
2000 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I.
|
16488172 |
2006 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
GA-1 is known as an autosomal recessively inherited disease due to defects in the gene coding for glutaryl-CoA dehydrogenase (GCDH), a mitochondrial enzyme involved in the catabolism of the amino acids hydroxylysine, lysine and tryptophan.
|
22231382 |
2012 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
|
27397597 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH).
|
31062211 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
|
9711871 |
1998 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Five Lumbee individuals with GA-I had homozygous 1240G>A mutations in GCD.
|
16466958 |
2006 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
|
25255367 |
2015 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase.
|
20514322 |
2010 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The neurometabolic disorder glutaric aciduria type 1 (GA1) is caused by mutations in the GCDH gene encoding the mitochondrial matrix protein glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes.
|
28062662 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Glutaric Acidemia Type 1: A Case of Infantile Stroke.
|
28411331 |
2018 |